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Phenotypes Associated with This Genotype
Genotype
MGI:5824293
Allelic
Composition
Tm6sf2tm1a(KOMP)Wtsi/Tm6sf2tm1a(KOMP)Wtsi
Genetic
Background
C57BL/6N-Tm6sf2tm1a(KOMP)Wtsi
Cell Lines EPD0097_3_F02
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tm6sf2tm1a(KOMP)Wtsi mutation (2 available); any Tm6sf2 mutation (30 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
liver/biliary system
• chow-fed mice show significantly higher liver triglyceride levels than wild-type controls; females show more pronounced increases in neutral lipids than males
• excess neutral lipids are primarily located in cytoplasmic lipid droplets
• chow-fed mice exhibit accumulation of neutral lipids in the liver
• Oil Red O staining revealed an increase in the number and median size of lipid droplets
• however, no changes in apoB-100 or apoB-48 levels are detected in liver lysates

homeostasis/metabolism
• when chow-fed mice are challenged with an acute bolus of corn oil delivered by gavage, absorption of triglycerides and cholesterol is modestly delayed
• when chow-fed mice are challenged with an acute bolus of corn oil delivered by gavage, cholesterol absorption is modestly decreased, esp. at early time points
• chow-fed mice exhibit less triglyceride levels in the VLDL fraction than wild-type controls
• plasma VLDL-TG levels are reduced due to a 3-fold decrease in VLDL-TG secretion rate without any parallel reduction in hepatic apoB secretion
• median VLDL particle diameter is smaller than in wild-type controls; more small VLDL particles (20-40 nm) and very few large particles (>50 nm) are observed
• chow-fed mice exhibit significantly higher plasma apoB-48 levels than wild-type controls
• however, despite the reduction in VLDL-TG, plasma apoB-100 levels are normal
• chow-fed mice exhibit higher serum levels of alanine transaminase than wild-type controls
• however, no pathological stigmata of liver injury, mononuclear infiltrates, ballooning of hepatocytes, or fibrin deposition is observed
• chow-fed mice show significantly higher liver cholesteryl ester levels than wild-type controls; females show more pronounced increases in neutral lipids than males
• however, hepatic levels of free cholesterol and phosphatidylcholine are normal both sexes
• chow-fed mice show a significant reduction in plasma cholesterol levels, reflecting a decrease in both the LDL and HDL fractions
• when fed a high fat diet for 12 weeks, males accumulate triglycerides in the jejunum; lipid droplets are detected along the basolateral surfaces of enterocytes covering surfaces of the villi as well as in the lamina propria of the villi but not in the crypts
• a similar pattern of neutral lipid accumulation is observed in the duodenum and ileum
• chow-fed mice exhibit higher triglyceride levels in the LDL fraction than wild-type controls
• chow-fed mice show significantly higher liver triglyceride levels than wild-type controls; females show more pronounced increases in neutral lipids than males
• excess neutral lipids are primarily located in cytoplasmic lipid droplets

digestive/alimentary system
• when fed a high fat diet for 12 weeks, males accumulate triglycerides in enterocytes, as shown by Oil Red O staining of the jejunum, duodenum and ileum
• lipid droplets are detected along the basolateral surfaces of enterocytes covering surfaces of the villi as well as in the lamina propria of the villi but not in the crypts
• when chow-fed mice are challenged with an acute bolus of corn oil delivered by gavage, absorption of triglycerides and cholesterol is modestly delayed
• when chow-fed mice are challenged with an acute bolus of corn oil delivered by gavage, cholesterol absorption is modestly decreased, esp. at early time points


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory